Detalhe da pesquisa
1.
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.
Hum Mol Genet
; 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38676400
2.
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
J Med Genet
; 61(2): 103-108, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37879892
3.
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
Hum Genomics
; 17(1): 16, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36859317
4.
Prenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus.
Prenat Diagn
; 44(5): 657-660, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38498110
5.
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
J Med Genet
; 60(2): 183-192, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35393335
6.
Cleavage-stage or blastocyst-stage embryo biopsy has no impact on growth and health in children up to 2 years of age.
Reprod Biol Endocrinol
; 21(1): 87, 2023 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37737174
7.
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.
Genet Med
; 24(2): 344-363, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906519
8.
Analysis of parental contribution for aneuploidy detection (APCAD): a novel method to detect aneuploidy and mosaicism in preimplantation embryos.
Reprod Biomed Online
; 44(3): 459-468, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930679
9.
Defining the phenotypical spectrum associated with variants in TUBB2A.
J Med Genet
; 58(1): 33-40, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32571897
10.
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.
Am J Hum Genet
; 100(3): 488-505, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28257691
11.
A clinical scoring system for congenital contractural arachnodactyly.
Genet Med
; 22(1): 124-131, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31316167
12.
Multiple vitrification-warming and biopsy procedures on human embryos: clinical outcome and neonatal follow-up of children.
Hum Reprod
; 35(11): 2488-2496, 2020 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33047114
13.
PREIMPLANTATION GENETIC TESTING: Clinical experience of preimplantation genetic testing.
Reproduction
; 160(5): A45-A58, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33112789
14.
An ACVRL1 gene mutation presenting as vein of Galen malformation at prenatal diagnosis.
Am J Med Genet A
; 182(5): 1255-1258, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32170914
15.
Prenatally detected copy number variants in a national cohort: A postnatal follow-up study.
Prenat Diagn
; 40(10): 1272-1283, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32436253
16.
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.
Am J Hum Genet
; 98(4): 627-42, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26996949
17.
A focused 35-minute whole body MRI screening protocol for patients with von Hippel-Lindau disease.
Hered Cancer Clin Pract
; 17: 22, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31384339
18.
The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
Prenat Diagn
; 38(13): 1120-1128, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30334587
19.
Central nervous system gadolinium accumulation in patients undergoing periodical contrast MRI screening for hereditary tumor syndromes.
Hered Cancer Clin Pract
; 16: 2, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29312473
20.
Can clinical characteristics be criteria to perform chromosomal microarray analysis in children and adolescents with autism spectrum disorders?
Minerva Pediatr
; 70(3): 225-232, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27607483